Toggle Main Menu Toggle Search

Open Access padlockePrints

Mutational analysis of the RPGRIP1L gene in patients with Joubert syndrome and nephronophthisis

Lookup NU author(s): Professor John Sayer

Downloads

Full text for this publication is not currently held within this repository. Alternative links are provided below where available.


Abstract

Joubert syndrome (JS) is an autosomal recessive disorder, consisting of mental retardation, cerebellar vermis aplasia, an irregular breathing pattern, and retinal degeneration. Nephronophthisis (NPHP) is found in 17-27% of these patients, which was designated JS type B. Mutations in four separate genes (AHI1, NPHP1, CEP290/NPHP6, and MKS3) are linked to JS. However, missense mutations in a new ciliary gene (RPGRIP1L) were found in type B patients. We analyzed a cohort of 56 patients with JS type B who were negative for mutations in three (AHI1, NPHP1, and CEP290/NPHP6) of the four genes previously linked to the syndrome. The 26 exons encoding RPGRIP1L were analyzed by means of PCR amplification, CEL I endonuclease digestion, and subsequent sequencing. Using this approach, four different mutations in the RPGRIP1L gene in five different families were identified and three were found to be novel mutations. Additionally, we verified that missense mutations are responsible for JS type B and cluster in exon 15 of the RPGRIP1L gene. Our studies confirm that a T615P mutation represents the most common mutation in the RPGRIP1L gene causing disease in about 8-10% of JS type B patients negative for NPHP1, NPHP6, or AHI1 mutations. © 2007 International Society of Nephrology.


Publication metadata

Author(s): Wolf MTF, Saunier S, O'Toole JF, Wanner N, Groshong T, Attanasio M, Salomon R, Stallmach T, Sayer JA, Waldherr R, Griebel M, Oh J, Neuhaus TJ, Josefiak U, Antignac C, Otto EA, Hildebrandt F

Publication type: Article

Publication status: Published

Journal: Kidney International

Year: 2007

Volume: 72

Issue: 12

Pages: 1520-1526

Print publication date: 01/12/2007

ISSN (print): 0085-2538

ISSN (electronic): 1523-1755

Publisher: Nature Publishing Group

URL: http://dx.doi.org/10.1038/sj.ki.5002630

DOI: 10.1038/sj.ki.5002630

PubMed id: 17960139


Altmetrics

Altmetrics provided by Altmetric


Actions

Find at Newcastle University icon    Link to this publication


Share